Alternate Names : Mucopolysaccharidosis II, Sulfo-Iduronate Sulfatase Deficiency
Hunter syndrome is a genetic disorder that causes a protein called mucopolysaccharide to build up in body tissues. This damages the tissues and leads to the symptoms.
What is going on in the body?
A person with Hunter syndrome lacks an enzyme known as sulfoiduronate sulfatase. When this enzyme is missing, mucopolysaccharides collect in body tissues, which causes damage.
What are the causes and risks of the disease?
Hunter syndrome is an X-linked recessive disease. This means that the gene that causes it is carried on the X chromosome. Males who receive the gene from a parent are affected. Females who receive the gene from a parent are not affected and are called carriers. The syndrome can also occur because of a mutation in a parent's sperm or egg cell.